Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome.

ABSTRACT:

Importance

BRCA1-associated protein (BAP1) tumor predisposition syndrome (TPDS) is a cancer genodermatosis associated with high risk of uveal and cutaneous melanoma, basal cell carcinoma, and multiple internal malignant neoplasms, including mesothelioma and renal cell carcinoma. Early detection of the syndrome is important for cancer surveillance and genetic counseling of family members who are at risk.

Objective

To determine the prevalence of nail abnormalities in individuals with pathogenic germline variants in BAP1.

Design, setting, and participants

In this prospective cohort study, individuals who were known carriers of pathogenic BAP1 germline variants were consecutively enrolled between October 10, 2023, and March 15, 2024. Dermatologic evaluation for nail abnor

SUBMITTER: Lebensohn A 

PROVIDER: S-EPMC11102040 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature